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Smith-Lemli-Opitz-Syndrom

Das Smith-Lemli-Opitz-Syndrom ist ein autosomal rezessives Fehlbildungssyndrom mit mentaler Retardierung. Mutationen im DHCR7-Gen sind verantwortlich.

Gliederung

Angeborene Fehlbildungen des Urogenitalsystems
Akro-reno-okuläres Syndrom
Autosomal dominantes Robinow-Syndrom 1
BMP7
BNAR-Syndrom
Branchio-okulo-faziales Syndrom
Branchio-oto-renale Dysplasie
Branchiootische Syndrom
CHARGE-Syndrom
CHD1L
Denys-Drash-Syndrom
Fraser-Syndrom
Frasier-Syndrom
Goldberg-Shprintzen-Syndrom
Hirnmalformation mit Urogenitaldefekten
IVIC-Syndrom
Ivemark-Syndrom
Kabuki-Syndrom
Kongenitale Anomalien der Niere und des Harntraktes 1
Kongenitale Anomalien der Niere und des Harntraktes 2
Kongenitaler hypogonadotroper Hypogonadismus mit Anosmie 1
Kongenitaler hypogonadotroper Hypogonadismus ohne Anosmie 5
Lakrimo-aurikulo-dento-digitales Syndrom
Mowat-Wilson-Syndrom
Neigung zu zystischen Nierenfehlbildung
Nierenzysten und Diabetes (RCAD)
Papillorenales Syndrom
Renal Dysplasie mit Hypopituitarismus und Diabetes
Renale Hypodysplasie/Aplasie
Renotubuläre Dysgenesie
SERKAL-Syndrom
Simpson-Golabi-Behmel-Syndrom
Smith-Lemli-Opitz-Syndrom
DHCR7
Somatisches Nephroblastom
Syndromische Microphthalmie 6
Tränen- und Speicheldrüsenaplasie
Urofaziales Syndrom
Vesicoureteraler Reflux
WAGR-Syndrom
autosomal rezessives Robinow-Syndrom

Referenzen:

1.

Porter JA et al. (1996) Cholesterol modification of hedgehog signaling proteins in animal development.

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2.

Shefer S et al. (1995) Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.

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3.

Wassif CA et al. (1998) Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

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4.

Fitzky BU et al. (1998) Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.

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5.

Nowaczyk MJ et al. (1998) Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings.

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6.

Yu H et al. (2000) Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi.

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7.

Yu H et al. (2000) Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.

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8.

Witsch-Baumgartner M et al. (2001) Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.

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9.

Wassif CA et al. (2001) Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/SmithLemliOpitz syndrome.

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10.

Nowaczyk MJ et al. (2001) DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.

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11.

Nowaczyk MJ et al. (2001) Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.

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12.

Langius FA et al. (2003) Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.

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13.

Kovarova M et al. (2006) Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness.

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14.

Witsch-Baumgartner M et al. (2008) Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

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15.

Koo G et al. (2010) Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.

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16.

Kalb S et al. (2012) High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.

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17.

Witsch-Baumgartner M et al. (2004) Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

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18.

Lazarin GA et al. (2013) An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

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19.

Roux C et al. (1979) Teratogenic action and embryo lethality of AY 9944R. Prevention by a hypercholesterolemia-provoking diet.

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20.

None (1975) Smith-Lemli-Opitz syndrome: review and report of two affected siblings.

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21.

Fierro M et al. (1977) Smith-Lemli-Opitz syndrome: neuropathological and ophthalmological observations.

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22.

Cherstvoy ED et al. () The pathological anatomy of the Smith-Lemli-Opitz syndrome.

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23.

Fukazawa R et al. () Normal Y sequences in Smith-Lemli-Opitz syndrome with total failure of masculinization.

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24.

Lachman MF et al. (1991) Brief clinical report: a 46,XY phenotypic female with Smith-Lemli-Opitz syndrome.

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25.

McKeever PA et al. (1990) Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals?

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26.

Berry R et al. (1989) Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1).

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27.

Chasalow FI et al. () Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents.

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28.

Bialer MG et al. (1987) Female external genitalia and müllerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome.

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29.

Opitz JM et al. (1987) Smith-Lemli-Opitz (RSH) syndrome bibliography.

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30.

Joseph DB et al. (1987) Genitourinary abnormalities associated with the Smith-Lemli-Opitz syndrome.

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31.

Scarbrough PR et al. (1986) An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia.

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32.

Curry CJ et al. (1987) Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.

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33.

Belmont JW et al. (1987) Two cases of severe lethal Smith-Lemli-Opitz syndrome.

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34.

Donnai D et al. (1986) The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.

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35.

Fried K et al. (1972) Smith-Lemli-Opitz syndrome in an adult.

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36.

Cotlier E et al. (1971) Cataracts in the Smith-Lemli-Opitz syndrome.

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37.

Suzuki K et al. (1971) Cellular degeneration in developing central nervous system of rats produced by hypocholesteremic drug AY9944.

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38.

None (1969) Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance.

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39.

Deaton JG et al. (1973) Smith-Lemli-Optiz syndrome in a 23-year-old man.

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40.

Nevo S et al. (1972) Smith-Lemli-Opitz syndrome in an inbred family.

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41.

Hoefnagel D et al. (1969) The Smith-Lemli-Opitz syndrome in an adult male.

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42.

Lowry RB et al. (1968) Micrognathia, polydactyly, and cleft palate.

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43.

Blair HR et al. (1966) A syndrome characterized by mental retardation, short stature, craniofacial dysplasia, and genital anomalies occurring in siblings.

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44.

Dallaire L et al. (1966) The syndrome of retardation with urogenital and skeletal anomalies in siblings.

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45.

Kenis H et al. (1967) A familial syndrome of mental retardation in association with multiple congenital anomalies resembling the syndrome of Smith-Lemli-Opitz.

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46.

Rutledge JC et al. (1984) A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations.

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47.

Greene C et al. (1984) Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia.

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48.

None (1983) Brief clinical report: familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith-Lemli-Opitz (RSH) syndrome.

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49.

None (1983) Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome.

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50.

Patterson K et al. (1983) Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome.

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51.

Tint GS et al. (1995) Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome.

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52.

Opitz JM et al. (1994) Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference.

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53.

Irons M et al. (1993) Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

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54.

Alley TL et al. (1995) Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient.

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55.

Xu G et al. (1995) Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats.

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56.

Johnson JA et al. (1994) Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II.

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57.

McGaughran J et al. (1994) Diagnosis of Smith-Lemli-Opitz syndrome.

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58.

Opitz JM et al. (1994) Smith-Lemli-Opitz (RSH) syndrome bibliography: 1964-1993.

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59.

Irons M et al. (1994) Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient.

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60.

Wallace M et al. (1994) Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene.

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61.

None (1993) Cholesterol defect in Smith-Lemli-Opitz syndrome.

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62.

Tint GS et al. (1994) Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.

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63.

Hyett JA et al. (1995) Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome.

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64.

Dallaire L et al. (1995) Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid.

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65.

Salen G et al. (1996) Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.

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66.

De Die-Smulders C et al. (1996) Confirmation of defective cholesterol biosynthesis in 2 previously described adult sibs with Smith-Lemli-Opitz syndrome.

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67.

Cormier-Daire V et al. (1996) Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes.

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68.

Guzzetta V et al. (1996) Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group.

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69.

Seller MJ et al. (1997) Phenotypic diversity in the Smith-Lemli-Opitz syndrome.

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70.

Pauli RM et al. (1997) Smith-Lemli-Opitz syndrome: thirty-year follow-up of "S" of "RSH" syndrome.

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71.

Cunniff C et al. (1997) Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.

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72.

Alley TL et al. (1997) Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20) (q32.1;q13.2).

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73.

Honda A et al. (1997) Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: diagnosis of a biochemically atypical case of the syndrome.

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74.

Honda A et al. (1997) Screening for abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome: rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometry.

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75.

Ness GC et al. (1997) Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels.

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76.

Elias ER et al. (1997) Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

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77.

Irons M et al. (1997) Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial.

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78.

Nwokoro NA et al. (1997) Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome.

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79.

Dehart DB et al. (1997) Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome.

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80.

Irons MB et al. (1998) Prenatal diagnosis of Smith-Lemli-Opitz syndrome.

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81.

Ryan AK et al. (1998) Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.

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82.

None (1998) RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis.

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83.

Anderson AJ et al. (1998) Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism.

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84.

Atchaneeyasakul LO et al. (1998) Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome.

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85.

Kratz LE et al. (1999) Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.

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86.

Andersson HC et al. (1999) Adrenal insufficiency in Smith-Lemli-Opitz syndrome.

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87.

Shackleton CH et al. (1999) Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus.

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88.

Neklason DW et al. (1999) Biochemical variants of Smith-Lemli-Opitz syndrome.

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89.

Anstey AV et al. (1999) Photosensitivity in the Smith-Lemli-Opitz syndrome: the US experience of a new congenital photosensitivity syndrome.

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90.

Honda M et al. (2000) Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome.

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91.

Linck LM et al. (2000) Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome.

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92.

Battaile KP et al. (2001) Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.

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93.

Azurdia RM et al. (2001) Cholesterol supplementation objectively reduces photosensitivity in the Smith-Lemli-Opitz syndrome.

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94.

Tierney E et al. (2001) Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome.

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95.

Nowaczyk MJ et al. (2001) Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada.

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Nowaczyk MJ et al. (2001) Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome.

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97.

None (2003) Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.

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98.

WEBER JW et al. (1960) [Typus Rostockiensis Ullrich-Feichtiger. Dyscranio-pygo-phalangia].

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99.

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100.

PINSKY L et al. (1965) A FAMILIAL SYNDROME OF FACIAL AND SKELETAL ANOMALIES ASSOCIATED WITH GENITAL ABNORMALITY IN THE MALE AND NORAML GENITALS IN THE FEMALE: ANOTHER CAUSE OF MALE PSEUDOHERMAPHRODITISM.

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101.

Goldenberg A et al. (2004) Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases.

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102.

Jezela-Stanek A et al. (2006) Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.

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103.

Sikora DM et al. (2006) The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.

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104.

Jiang XS et al. (2010) Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications.

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105.

OMIM.ORG article

Omim 270400 external link
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Orphanet article

Orphanet ID 818 external link
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Wikipedia Artikel

Wikipedia DE (Smith-Lemli-Opitz-Syndrom) external link
Update: 14. August 2020
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